Is The Eye A Window To The Brain In Sanfilippo Syndrome?
Funder
National Health and Medical Research Council
Funding Amount
$852,967.00
Summary
Study of the retina and optic nerve permits evaluation of central nervous system – these structures contain both neurons and glia and are outgrowths of the developing brain. Therefore, eye examination may allow us to study the brain and monitor brain disease and the effect of therapy. This project will determine whether brain disease in a childhood-onset disorder (Sanfilippo syndrome) and treatment of it, can be monitored in this way.
Biobank Networks, Medical Research And The Challenge Of Globalisation
Funder
National Health and Medical Research Council
Funding Amount
$790,698.00
Summary
Medical research increasingly relies on large-scale biobanks that store tissue samples from healthy donors or patients. Over the past decade, international networks of biobanks have been established. These are scientifically valuable but raise numerous legal and ethical challenges. In this project we will generate evidence to inform the development of ethically rigorous strategies to ensure that Australian donors and biobanks contribute to, and benefit from, international biobank networks.
Banking On The Future: Establishing Evidence For Policy, Protocols, And Patient Care Relating To Storage Of Reproductive Material Before Treatment For Cancer
Funder
National Health and Medical Research Council
Funding Amount
$588,023.00
Summary
Cancer treatment can cause infertility. Patients may freeze sperm, eggs, embryos, or ovarian tissue before cancer treatment for later use in fertility treatment. There are no national guidelines specific to this procedure, no generally accepted policies for services, inadequate knowledge about its outcomes, and limited understanding of the needs and expectations of patients who undergo it. This research will address these knowledge gaps and thus contribute to the wellbeing of cancer patients and ....Cancer treatment can cause infertility. Patients may freeze sperm, eggs, embryos, or ovarian tissue before cancer treatment for later use in fertility treatment. There are no national guidelines specific to this procedure, no generally accepted policies for services, inadequate knowledge about its outcomes, and limited understanding of the needs and expectations of patients who undergo it. This research will address these knowledge gaps and thus contribute to the wellbeing of cancer patients and survivors.Read moreRead less
Ensuring The Utility And Sustainability Of Tissue Banks: Supporting Translational Research In Australia Through Informed Regulation And Community Engagement.
Funder
National Health and Medical Research Council
Funding Amount
$481,885.00
Summary
Tissue banks provide a critical resource for translational research into the causes and treatment of many diseases affecting children and adults, such as cancer.Their success and contribution to medical research depends on addressing the many unresolved and emerging challenges that impact their work. This is the first national empirical study engaging the Australian research community, legal experts tissue donors and the public about the challenges to tissue banks to inform ethico legal regulati ....Tissue banks provide a critical resource for translational research into the causes and treatment of many diseases affecting children and adults, such as cancer.Their success and contribution to medical research depends on addressing the many unresolved and emerging challenges that impact their work. This is the first national empirical study engaging the Australian research community, legal experts tissue donors and the public about the challenges to tissue banks to inform ethico legal regulation and deliver better health care systems.Read moreRead less
Dissecting The TMPRSS6 Regulation Of Iron Homeostasis
Funder
National Health and Medical Research Council
Funding Amount
$613,311.00
Summary
Iron overload and anaemia are two of the most significant health problems affecting humans. Understanding how the body regulates iron levels is key to our understanding of these disorders and to the future development of new therapies. This research is aimed at understanding how a hormone produced in the liver called hepcidin that maintains iron balance is regulated. This research may lead to novel therapies aimed at correcting the iron balance in conditions of iron overload or anaemia
How The Environment And Epigenetics Affect The Brain Disease Gene, MAPT.
Funder
National Health and Medical Research Council
Summary
Genetic variants in the microtubule associated protein Tau (MAPT) gene are major risk factors for Alzheimer’s disease and Parkinson’s disease. Environmental or lifestyle factors, such as diet and smoking, have crucial roles in changing the risk of developing these diseases. These environmental factors may exert their influence via a mechanism known as "epigenetics". This project aims to determine whether the MAPT gene is susceptible to epigenetic changes by environmental factors, and whether thi ....Genetic variants in the microtubule associated protein Tau (MAPT) gene are major risk factors for Alzheimer’s disease and Parkinson’s disease. Environmental or lifestyle factors, such as diet and smoking, have crucial roles in changing the risk of developing these diseases. These environmental factors may exert their influence via a mechanism known as "epigenetics". This project aims to determine whether the MAPT gene is susceptible to epigenetic changes by environmental factors, and whether this process will have an impact on these diseases.Read moreRead less
Defining The Changes In Cell Biology Caused By PRESENILIN Truncations Associated With Different Diseases
Funder
National Health and Medical Research Council
Funding Amount
$622,886.00
Summary
Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be requir ....Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be required for the development of treatments.Read moreRead less
Human Olfactory Neurosphere-derived Cells: A Novel Cellular Model For Parkinson's Disease.
Funder
National Health and Medical Research Council
Funding Amount
$365,126.00
Summary
ParkinsonÍs disease (PD) is an incurable, brain disease that affects 75,000 Australians with great societal cost. We are working on adult stem cells called (hONS) grown from peopleÍs olfactory mucosa (in the nose) as a research tool to study PD. Our project examines differences seen in hONS from people with PD and determines how certain cellular processes impact on the function of these cells. This work will enhance our understanding of the biology of PD and identify new targets for therapies.
Functional Analysis Of Recently Identified Novel Glaucoma Genes.
Funder
National Health and Medical Research Council
Funding Amount
$519,918.00
Summary
Glaucoma is the commonest cause of irreversible blindness in the world. Recently, through genetic studies in cohorts of blinding glaucoma cases from Australia, our group has found that variants in two genes increase the risk of blinding glaucoma. This project will investigate how these genes contribute to pathological changes in the optic nerve and retina, at the back of the eye, that lead to glaucoma. This knowledge will be useful for developing new strategies to treat glaucoma.
New High Thoughput Animal Models To Investigate Amyloid Beta Toxicity
Funder
National Health and Medical Research Council
Funding Amount
$402,223.00
Summary
Amyloid-beta is widely considered to cause Alzheimer’s disease. The majority of amyloid-beta in Alzheimer's disease brains is found as shortened forms. The role of these shortened forms is uncertain and are not being tested in current animal models. We propose to develop new models to determine and compare their respective toxic effects, and to use these new models to help identify drugs to treat Alzheimer's disease.